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In the past the Mondini malformation of the cochlea has been described histologically on the basis of findings in one temporal bone from a patient with confirmed Pendred's syndrome. The present study presents the histological examination of six temporal bones from 5 patients with confirmed Pendred syndrome. The characteristic Mondini cochlea was found in(More)
The branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and renal anomalies. BOR is genetically heterogeneous and caused by mutations in EYA1 (8q13.3), SIX1 (14q23.1), SIX5 (19q13.3) and in an unidentified gene on 1q31. We examined six Danish families with BOR syndrome by assessing linkage to BOR(More)
The inner ears of 5 adult patients with Pendred's syndrome were investigated using a Siemens SOMATOM DRG. Five normal hearing adults participated in the investigation as a control group. The CT-scanning comprised 10-15 consecutive scans of the cochlea. The CT evaluation was performed using both a special bone setting and a soft tissue setting. The cochlear(More)
This study presents clinical, audiological, radiological and biochemical data on 14 individuals representing 6 families, each including at least one patient with the classical Pendred's syndrome. The size of the thyroid, degree of hearing loss and result of the iodine perchlorate discharge test showed great variations, even between affected relatives. Based(More)
A family group with confirmed branchio-oto-renal (BOR) syndrome was investigated in this study. Computerized tomography of the temporal bones has demonstrated that the malformations of the inner ear consist of hypoplastic structural changes within the cochlea with reduced vertical diameters, and absent or hypoplastic semicircular canals and normal(More)
Otolaryngological complications occurred in 5 per cent of 467 patients with infectious mononucleosis admitted consecutively to the ENT-department during the period 1 April 1969 to 30 June 1981. Four patients had peritonsillar abscess and five patients developed potentially lethal obstruction of the upper airway. Such complications require intervention and,(More)
Five patients suffering from familial periodic paralysis with hypokalemia (FPP) were exposed to standard paralysis induction trials which elicited total paralyysis and hypokalemia. In all cases the serum potassium fell to or below 2.6 mmol/1. After being pre-treated with diazoxide for 72 h, the same five patients were exposed to the same standardized(More)
A double-blind clinical trial with cross-over was conducted for a period of 12 months in 25 patients with recurrent aphthous stomatitis (RAS). The effect of the amyloglucosidase and glucoseoxidase containing Zendium toothpaste on the discomfort, number of exacerbations, duration of exacerbation, number of ulcers and number of days with pain caused by RAS(More)
Seventeen unrelated Danish patients with Pendred's syndrome, whose case stories have not been published previously, are presented. Acoustic and vestibular functions were examined and endocrinological screening was performed. There was a great variation in hearing ability as well as in thyroid function. Furthermore, in contrast to previous investigations,(More)